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D for Diagnosis/es

The diagnosis odyssey

It took 15 months to get a diagnosis for our eldest son's condition. For over a year, we didn’t know what might be causing Eliott’s seizures, and the developmental delays we were starting to witness.

Eliott had numerous tests done when he was just a few days old, blood tests, MRIs, urine tests, EEGs, ECGs, lumbar punctures (plural). But every result had come back negative. Every time, we were told it was good news because it wasn’t an obvious and serious condition, and he might grow out of it.

It is only when I fell pregnant with our second that the doctors agreed to run more comprehensive testing, and we finally got a diagnosis. Our eldest had a mutation of one of his KCNQ2 genes, a rare and catastrophic form of genetic epilepsy. It doesn’t have a cure and most patients go on to have a wide range of mental and physical disabilities. Some have sleeping and eating disorders, and a high proportion also have ADHD and ASD.

No one could tell us what a prognosis might look like for our son, because patients seem to have a wide range of symptoms. Some with the same mutation have vastly different symptoms and levels of abilities.

As a baby, Eliott was the most chilled little human there was. He smiled early, and he always made good eye contact. He was generally slow to reach his milestones, but met most of his gross motor skills milestones just in time, even walking at the 18-month threshold. ADHD and ASD were always on our mind as potential risks, but we had good hopes.

Getting a second diagnosis

By the time he was 3, he was barely speaking, and a global developmental delay had been diagnosed. He wasn’t sleeping much, or at least very inconsistently, and he was incredibly active. I remember reading a book about ADHD. A section in the book had struck me. It was the mother’s recollection of going to the grocery store with her daughter. How the daughter couldn’t stop touching everything, she would let her hand hang out of the trolley to touch the products, every time all the pasta would end up on the floor. She’d do the same in clothing stores and touch clothes and accessories, just to feel the fabric. I knew exactly what she meant, because my son was doing the same thing, every single time.

He was diagnosed with ADHD at age 5, it wasn’t really a surprise. It was a fact, and one that we had probably known for months when we heard the words. We tried medication, which made things worse, we tried a gluten-free diet, but we could not really prove its effectiveness, so we learnt to live with it. Mind you, it’s not really a skill that you can learn, but we have come to accept that he is always going to be busy.

We had a couple of tough years, when COVID hit, we moved back to France to be closer to family. Our boys had lived in Sydney their entire lives, and were now discovering Normandy. We ourselves had spent over a decade in Sydney, it had become home for us, and it was a challenging transition to navigate. When lockdown orders were finally lifted, we saw how much the boys loved spending time with family, but we will always look back on that time as a very stressful and emotional one.

The boys also had to discover the French school system, which was difficult for Eliott. It brought on a lot of anxiety.

The latest stage of our journey

New behavioural traits started to appear. Sensitivity to touch and sounds. Towards the end of the first year of kindergarten, he was taking a shower in the morning because it seemed like the only thing that would relax him, and he could stay in it for 15 minutes while we were next to him getting dressed and ready. By the time he started his second year in school, it was impossible to get him near a shower, the sound of the water was too much for him and he would put his hands on his ears, screaming and kicking to stay away from the shower.

His neurologist suggested new medication to help with anxiety and aggressive behaviour. We refused for a year, and then agreed to try because we could see that he needed them.

He started doing repetitive movements in stressful situations, and seeking lots of sensory inputs. All this wasn’t new new. But the intensity of it was. It was also in addition to things we’d always observed, like poor social skills. This one was always tricky to explain, Eliott loves observing other children play, he enjoys being a part of a group, but doesn’t know how to interact, and gets confused when asked to participate.

We started going to a clinic to get him assessed for ASD. We always knew that it was a possibility, and when we finally got the diagnosis, again, it wasn’t a surprise. It doesn’t make it easier.

On some level, getting him diagnosed was necessary and even helpful. It allowed us to get him access to a new school which can provide a better environment for him. It is also a more ‘recognised’ condition so people immediately grasp what’s involved when we say he is on the spectrum.

Of course, we can better support him by knowing, but sometimes it feels like a never-ending race we can’t really win.

Where to from here?

For the first 15 months, we prayed for answers. Now we have more than we thought possible at the time.

This is why I want to share our journey. No one has it figured out, we’re all progressing as best we can. You are not alone.


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